Multiple epiphyseal dysplasia with severe proximal femoral dysplasia

disorder

SNOMED 763893008CUI C1836315

Overview

Multiple epiphyseal dysplasia with severe proximal femoral dysplasia is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abnormal development of the ends of long bones in arms and legs

HP:0002656

Abnormal hands

HP:0001155

Arthralgias

HP:0002829

Broad femoral neck

HP:0006429

Coxa vara

HP:0002812

Decreased body height

HP:0004322

Flared metaphysis of thigh bone

HP:0002834

Flattened distal femoral epiphyses

HP:0006398

Flattened vertebral bodies

HP:0000926

Genu valga

HP:0002857

Hip arthralgia

HP:0003365

Hypoplastic femoral neck

HP:0100864

Irregularity of vertebral bodies

HP:0004582

Proximal femoral metaphyseal irregularity

HP:0003411

Related Conditions

Multiple epiphyseal dysplasia(parent)

Congenital anomaly of femur(parent)

Disorder of hip(parent)

Congenital anomaly of lower trunk(parent)

Congenital dysplasia of lower extremity(parent)

Quick Facts

SNOMED CT: 763893008
UMLS CUI: C1836315
Fully Specified Name: Multiple epiphyseal dysplasia with severe proximal femoral dysplasia (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 14

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.